{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:47:25Z","timestamp":1762004845607},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T00:00:00Z","timestamp":1484784000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Pediatr"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1007\/s12519-017-0005-x","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T03:16:37Z","timestamp":1484795797000},"page":"374-380","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations"],"prefix":"10.1007","volume":"13","author":[{"given":"Souad","family":"Ouesleti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Francisca","family":"Coutinho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaura","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdehedi","family":"Miled","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalila Saidane","family":"Mosbahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,1,19]]},"reference":[{"key":"5_CR1","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"EF Neufeld","year":"2001","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGrawHill, 2001: 3421\u20133453."},{"key":"5_CR2","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1002\/humu.1189","volume":"18","author":"G Yogalingam","year":"2001","unstructured":"Yogalingam G, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications. Hum Mutat 2001;18:264\u2013281.","journal-title":"Hum Mutat"},{"key":"5_CR3","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1002\/humu.20986","volume":"30","author":"M Feldhammer","year":"2009","unstructured":"Feldhammer M, Durand S, Mr\u00e1zov\u00e1 L, Boucher RM, Laframboise R, Steinfeld R, et al. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alphaglucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat 2009;30:918\u2013925.","journal-title":"Hum Mutat"},{"key":"5_CR4","doi-asserted-by":"publisher","first-page":"471325","DOI":"10.1155\/2012\/471325","volume":"2012","author":"MF Coutinho","year":"2012","unstructured":"Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int 2012;2012:471325.","journal-title":"Biochem Res Int"},{"key":"5_CR5","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/ng1295-465","volume":"11","author":"HS Scott","year":"1995","unstructured":"Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, et al. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet 1995;11:465\u2013467.","journal-title":"Nat Genet"},{"key":"5_CR6","doi-asserted-by":"publisher","first-page":"6101","DOI":"10.1073\/pnas.93.12.6101","volume":"93","author":"HG Zhao","year":"1996","unstructured":"Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF. The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci USA 1996;93:6101\u20136105.","journal-title":"Proc Natl Acad Sci USA"},{"key":"5_CR7","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1086\/508068","volume":"79","author":"X Fan","year":"2006","unstructured":"Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 2006;79:738\u2013744.","journal-title":"Am J Hum Genet"},{"key":"5_CR8","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1086\/508294","volume":"79","author":"M Hreb\u00edcek","year":"2006","unstructured":"Hreb\u00edcek M, Mr\u00e1zov\u00e1 L, Seyrantepe V, Durand S, Roslin NM, Noskov\u00e1 L, et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 2006;79:807\u2013819.","journal-title":"Am J Hum Genet"},{"key":"5_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0888-7543(02)00014-9","volume":"81","author":"A Mok","year":"2003","unstructured":"Mok A, Cao H, Hegele RA. Genomicbasis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics 2003;81:1\u20135.","journal-title":"Genomics"},{"key":"5_CR10","doi-asserted-by":"publisher","first-page":"2326","DOI":"10.1016\/j.cca.2011.08.032","volume":"412","author":"S Ouesleti","year":"2011","unstructured":"Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, et al. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clin Chim Acta 2011;412:2326\u20132331.","journal-title":"Clin Chim Acta"},{"key":"5_CR11","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1007\/s12687-012-0128-7","volume":"4","author":"N Ben Halim","year":"2013","unstructured":"Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, et al. Consanguinity, endogamy, and genetic disorders in Tunisia. J Community Genet 2013;4:273\u2013284.","journal-title":"J Community Genet"},{"key":"5_CR12","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248\u2013249.","journal-title":"Nat Methods"},{"key":"5_CR13","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073\u20131081.","journal-title":"Nat Protoc"},{"key":"5_CR14","doi-asserted-by":"publisher","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","volume":"31","author":"Y Choi","year":"2015","unstructured":"Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 2015;31:2745\u20132747.","journal-title":"Bioinformatics"},{"key":"5_CR15","doi-asserted-by":"publisher","first-page":"6560","DOI":"10.1073\/pnas.0711491105","volume":"105","author":"E Ficko-Blean","year":"2008","unstructured":"Ficko-Blean E, Stubbs KA, Nemirovsky O, Vocadlo DJ, Boraston AB. Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc Natl Acad Sci USA 2008;105:6560\u20136565.","journal-title":"Proc Natl Acad Sci USA"},{"key":"5_CR16","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.1107\/S1399004714002739","volume":"70","author":"NS Sidhu","year":"2014","unstructured":"Sidhu NS, Schreiber K, Pr\u00f6pper K, Becker S, Us\u00f3n I, Sheldrick GM, et al. Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. Acta Crystallogr D Biol Crystallogr 2014;70:1321\u20131335.","journal-title":"Acta Crystallogr D Biol Crystallogr"},{"key":"5_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0925-4439(99)00118-0","volume":"1501","author":"S Esposito","year":"2000","unstructured":"Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, et al. Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Biochim Biophys Acta 2000;1501:1\u201311.","journal-title":"Biochim Biophys Acta"},{"key":"5_CR18","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1006\/mgme.2000.3052","volume":"71","author":"KM Dipple","year":"2000","unstructured":"Dipple KM, McCabe ER. Modifier genes convert \"simple\" Mendelian disorders to complex traits. Mol Genet Metab 2000;71:43\u201350.","journal-title":"Mol Genet Metab"},{"key":"5_CR19","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/ajmg.a.33779","volume":"155A","author":"B H\u00e9ron","year":"2011","unstructured":"H\u00e9ron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 2011;155A:58\u201368.","journal-title":"Am J Med Genet A"},{"key":"5_CR20","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s10545-012-9533-7","volume":"36","author":"LM Pollard","year":"2013","unstructured":"Pollard LM, Jones JR, Wood TC. Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. J Inherit Metab Dis 2013;36:179\u2013187.","journal-title":"J Inherit Metab Dis"},{"key":"5_CR21","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P","volume":"11","author":"P Natale Di","year":"1998","unstructured":"Di Natale P, Balzano N, Esposito S, Villani GR. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 1998;11:313\u2013320.","journal-title":"Hum Mutat"},{"key":"5_CR22","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1093\/hmg\/6.9.1573","volume":"6","author":"B Weber","year":"1997","unstructured":"Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, et al. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 1997;6:1573\u20131579.","journal-title":"Hum Mol Genet"},{"key":"5_CR23","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1086\/301685","volume":"62","author":"A Schmidtchen","year":"1998","unstructured":"Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, et al. NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet 1998;62:64\u201369.","journal-title":"Am J Hum Genet"},{"key":"5_CR24","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1136\/jmg.35.11.910","volume":"35","author":"CE Beesley","year":"1998","unstructured":"Beesley CE, Young EP, Vellodi A, Winchester BG. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 1998;35:910\u2013914.","journal-title":"J Med Genet"},{"key":"5_CR25","first-page":"28","volume":"36","author":"S Bunge","year":"1999","unstructured":"Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, et al. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 1999;36:28\u201331.","journal-title":"J Med Genet"},{"key":"5_CR26","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/sj.ejhg.5200242","volume":"7","author":"B Weber","year":"1999","unstructured":"Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 1999;7:34\u201344.","journal-title":"Eur J Hum Genet"},{"key":"5_CR27","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1002\/humu.20986","volume":"30","author":"M Feldhammer","year":"2009","unstructured":"Feldhammer M, Durand S, Mr\u00e1zov\u00e1 L, Boucher RM, Laframboise R, Steinfeld R, et al. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alphaglucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat 2009;30:918\u2013925.","journal-title":"Hum Mutat"},{"key":"5_CR28","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1111\/j.1399-0004.2010.01525.x","volume":"80","author":"I Canals","year":"2011","unstructured":"Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, et al. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet 2011;80:367\u2013374.","journal-title":"Clin Genet"}],"container-title":["World Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12519-017-0005-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-017-0005-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-017-0005-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T12:43:10Z","timestamp":1524746590000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12519-017-0005-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,19]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["5"],"URL":"https:\/\/doi.org\/10.1007\/s12519-017-0005-x","relation":{},"ISSN":["1708-8569","1867-0687"],"issn-type":[{"value":"1708-8569","type":"print"},{"value":"1867-0687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,19]]}}}